Detecting Regions of Homozygosity to Map the Cause of Recessively Inherited Disease

2013 ◽  
pp. 331-345 ◽  
Author(s):  
James W. Kijas
Keyword(s):  
Inherited Disease ◽  
Regions Of Homozygosity

The Cardiac Inherited Disease Group's Experience of Brugada Syndrome in New Zealand

2021 ◽  
Vol 30 ◽  
pp. S68
Author(s):  
D. Gelbart ◽  
N. Earle ◽  
J. Crawford ◽  
R. Stiles ◽  
T. Donoghue ◽  
...  
Keyword(s):  
New Zealand ◽  
Brugada Syndrome ◽  
Inherited Disease

scholarly journals Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Da-Bei Fan ◽  
Li Li ◽  
Hao-Hao Zhang
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Energy Homeostasis ◽  
Hypogonadotropic Hypogonadism ◽  
Chinese Family ◽  
Orphan Nuclear Receptor ◽  
Inherited Disease ◽  
Adrenal Hyperplasia ◽  
Infancy And Early Childhood ◽  
Disordered Energy

AbstractCongenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of steroidogenesis disorder and is associated with variants or complete deletion of the NR0B1 gene. The DAX-1 protein (encoded by NR0B1) is a vertebrate-specific orphan nuclear receptor and is also a transcriptional factor for adrenal and reproductive development. CAH usually causes adrenal insufficiency in infancy and early childhood, leading to hypogonadotropic hypogonadism in adulthood; however, few adult cases have been reported to date. In this study, we examined a Chinese family with one adult patient with CAH, and identified a putative variant of NR0B1 gene via next-generation sequencing (NGS), which was confirmed with Sanger sequencing. A novel nonsense variant (c.265C>T) was identified in the NR0B1 gene, which caused the premature termination of DAX-1 at residue 89 (p.G89*). Furthermore, mutant NR0B1 gene displayed a partial DAX-1 function, which may explain the late pathogenesis in our case. Additionally, qPCR revealed the abnormal expression of four important genes identified from ChIP-seq, which were associated with energy homeostasis and steroidogenesis, and were influenced by the DAX-1 mutant. In addition, hormone disorders can be caused by DAX-1 mutant and partially recovered by siRNA of PPARGC1A. Herein, we identified a novel nonsense variant (c.265C>T) of NR0B1 in a 24-year-old Chinese male who was suffering from CAH. This mutant DAX-1 protein was found to have disordered energy homeostasis and steroidogenesis based on in vitro studies, which was clinically consistent with the patient’s phenotypic features.

scholarly journals Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein

2021 ◽  
Vol 22 (4) ◽  
pp. 2001
Author(s):  
Silvia Spena ◽  
Chiara Cordiglieri ◽  
Isabella Garagiola ◽  
Flora Peyvandi
Keyword(s):  
Monoclonal Antibody ◽  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Limiting Factors ◽  
Inherited Disease ◽  
Specific Monoclonal Antibody ◽  
Native Form ◽  
Fetal Cells ◽  
Non Invasive ◽  
Reliable Isolation

Hemophilia is an X-linked recessive bleeding disorder. In pregnant women carrier of hemophilia, the fetal sex can be determined by non-invasive analysis of fetal DNA circulating in the maternal blood. However, in case of a male fetus, conventional invasive procedures are required for the diagnosis of hemophilia. Fetal cells, circulating in the maternal bloodstream, are an ideal target for a safe non-invasive prenatal diagnosis. Nevertheless, the small number of cells and the lack of specific fetal markers have been the most limiting factors for their isolation. We aimed to develop monoclonal antibodies (mAbs) against the ribosomal protein RPS4Y1 expressed in male cells. By Western blotting, immunoprecipitation and immunofluorescence analyses performed on cell lysates from male human hepatoma (HepG2) and female human embryonic kidney (HEK293) we developed and characterized a specific monoclonal antibody against the native form of the male RPS4Y1 protein that can distinguish male from female cells. The availability of the RPS4Y1-targeting monoclonal antibody should facilitate the development of novel methods for the reliable isolation of male fetal cells from the maternal blood and their future use for non-invasive prenatal diagnosis of X-linked inherited disease such as hemophilia.

scholarly journals The Metabolic Basis of Inherited Disease

1979 ◽  
Vol 73 (6) ◽  
pp. 584-585
Author(s):  
Lawrence M. Solomon
Keyword(s):  
Inherited Disease ◽  
Metabolic Basis

Regions of homozygosity and their impact on complex diseases and traits

2010 ◽  
Vol 129 (1) ◽  
pp. 1-15 ◽  
Author(s):  
Chee Seng Ku ◽  
Nasheen Naidoo ◽  
Shu Mei Teo ◽  
Yudi Pawitan
Keyword(s):  
Complex Diseases ◽  
Regions Of Homozygosity

scholarly journals Loss of exon identity is a common mechanism of human inherited disease

2011 ◽  
Vol 21 (10) ◽  
pp. 1563-1571 ◽  
Author(s):  
T. Sterne-Weiler ◽  
J. Howard ◽  
M. Mort ◽  
D. N. Cooper ◽  
J. R. Sanford
Keyword(s):  
Common Mechanism ◽  
Inherited Disease ◽  
Human Inherited Disease

Neurosurgical Management of Congenital Malformations and Inherited Disease of the Spine

2011 ◽  
Vol 21 (3) ◽  
pp. 719-731 ◽  
Author(s):  
Shawn L. Hervey-Jumper ◽  
Hugh J.L. Garton ◽  
Nicholas M. Wetjen ◽  
Cormac O. Maher
Keyword(s):  
Congenital Malformations ◽  
Inherited Disease

Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth

2021 ◽  
Author(s):  
Cuiting Peng ◽  
Jun Ren ◽  
Yutong Li ◽  
Yuezhi Keqie ◽  
Fan Zhou ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Live Birth ◽  
Inherited Disease ◽  
Preimplantation Genetic Testing
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